L7W (p.Leu7Trp) variant of F2 (Prothrombin)
L7W (p.Leu7Trp) in F2 (Prothrombin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
L7W (p.Leu7Trp) variant details
- p.Leu7Trp
- gnomAD 11-46719255-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.349
- REVEL 0.42
- CADD 23.50
- PolyPhen-2 0.84
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available